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SOX8 SRY-box 8 [ Homo sapiens (human) ]

Gene ID: 30812, updated on 26-May-2016
Official Symbol
SOX8provided by HGNC
Official Full Name
SRY-box 8provided by HGNC
Primary source
HGNC:HGNC:11203
See related
Ensembl:ENSG00000005513 HPRD:16175; MIM:605923; Vega:OTTHUMG00000122101
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation (ART-16 syndrome). [provided by RefSeq, Jul 2008]
Orthologs
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 16 NC_000016.10 (981808..986979)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1031808..1036979)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene lipase maturation factor 1 Neighboring gene serine/arginine repetitive matrix protein 2-like Neighboring gene LMF1 antisense RNA 1 Neighboring gene SSTR5 antisense RNA 1 Neighboring gene somatostatin receptor 5 Neighboring gene C1q and tumor necrosis factor related protein 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation Page
Haploinsufficency

No evidence available (Last evaluated (2012-02-22)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC24837

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
RNA polymerase II core promoter sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Sertoli cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
adipose tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
astrocyte fate commitment IEA
Inferred from Electronic Annotation
more info
 
cell fate commitment ISS
Inferred from Sequence or Structural Similarity
more info
 
cell maturation IEA
Inferred from Electronic Annotation
more info
 
enteric nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
male gonad development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric nephron tubule formation ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of a branching epithelium ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of myoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of photoreceptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
osteoblast differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
peripheral nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of gliogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of osteoblast proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of hormone levels ISS
Inferred from Sequence or Structural Similarity
more info
 
renal vesicle induction ISS
Inferred from Sequence or Structural Similarity
more info
 
retina development in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
retinal rod cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
ureter morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
nuclear transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nucleus IC
Inferred by Curator
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-8
Names
SRY (sex determining region Y)-box 8
SRY box 8

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009933.2 RefSeqGene

    Range
    5001..10172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014587.4NP_055402.2  transcription factor SOX-8

    See identical proteins and their annotated locations for NP_055402.2

    Status: REVIEWED

    Source sequence(s)
    AC009041, BC031797, KF456143
    Consensus CDS
    CCDS10428.1
    UniProtKB/Swiss-Prot
    P57073
    Related
    ENSP00000293894, OTTHUMP00000151195, ENST00000293894, OTTHUMT00000242867
    Conserved Domains (2) summary
    cd01388
    Location:101171
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12444
    Location:2089
    Sox_N; Sox developmental protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p2 Primary Assembly

    Range
    981808..986979
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    1030757..1035928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)